Response of the ENPP1‐Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice
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DOI: 10.1002/jbmr.4254
Abstract: Inactivating mutations in human ecto‐nucleotide pyrophosphatase/phosphodiesterase‐1 (ENPP1) may result in early‐onset osteoporosis (EOOP) in haploinsufficiency and autosomal recessive hypophosphatemic rickets (ARHR2) in homozygous deficiency. ARHR2 patients are frequently treated with phosphate supplementation to ameliorate the… read more here.
Keywords: enpp1; bone; bone mass; arhr2 patients ... See more keywords